Research — TRPM3 Foundation

TRPM3 Research

2023

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

Lydie Burglen et al.
January 17, 2023

2022

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia

Matthew A Lines et al.
June, 2022

2021

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

Qingyun Kang et al.
June 1, 2021

The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability

Lydie Burglen et al.
April 14, 2021

TRPM3 in Brain (Patho)Physiology

Katharina Held, Balázs István Tóth
February 26, 2021

Mutation of the TPRM3 cation channel underlies progressive cataract development and lens calcification associated with profibrotic and immune cell responses

Yuefang Zhou et al.
January 23, 2021

2020

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

Jean-Madeleine de Sainte Agathe et al.
August, 2020

Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy

Evelien Van Hoeymissen et al.
May 19, 2020

2019

Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms

Siyuan Zhao, Yevgen Yudin, Tibor Rohacs
April 28, 2020

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

David A. Dyment et al.
July 5, 2019

Description of a novel patient with the TRPM3 recurrent p.Val837Met variant

Lucas W Gauthier et al.
November, 2021